ORPHA:79327

ALG1-CDG

Also called Carbohydrate deficient glycoprotein syndrome type Ik, Congenital disorder of glycosylation type 1k, Congenital disorder of glycosylation type Ik, Mannosyltransferase 1 deficiency, CDG syndrome type Ik, CDG-Ik, CDG1K

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79327 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.